Table 2.
Imprinting disorders
| Disorder | Chr (s) | Prevalence | OMIM [113] | % DNA methylation disturbance | % of MLID in imprinting error cases | References |
|---|---|---|---|---|---|---|
| Beckwith-Wiedemann syndrome | 11p15.5 | 1:10,000–1:80,000 | #130,650 |
50% KCNQ1OT1 TSS-DMR LOM*; 10% H19/IGF2 IG-DMR GOM |
12.8% Not described |
[100,101] |
| Silver–Russell syndrome |
11p15.5, chr7 |
1:16,000 | #180,860 | 28.3*–38% |
5.1% Individual cases |
[75,84, 102] |
| Transient neonatal diabetes mellitus type 1 | 6q24 | 1:15,000–1:400,000 | #601,410 | 30%* | 50% | [103] |
| Pseudohypoparathyroidism type 1b | 20q13.3 | nk | #603,233 | 61%* | (0–38%) | [83] |
| Temple syndrome | 14q32 | nk | #616,222 | 33.8*–58.8% | nk | [22, 104] |
| Kagami–Ogata syndrome | 14q32 | nk | #608,140 | 26.6% | Not described | [105, 106] |
| Angelman syndrome | 15q11.2 | 1:25,000–40,000 | #105,830 | 2–4% | 3% | [107, 108] |
| Prader–Willi syndrome | 15q11.2 | 1:8,000–1:30,000 | #176,270 | 1% | Rare | [108, 109] |
| Mulchandani-Bhoj-Conlin syndrome | chr20 | nk | #617,352 | Not described | Not described | [110–112] |
nk, not known
*indicates the imprinting disorders and aetiological groups in whom MLID is observed References here are reviews of individual imprinting disorders. References specifically concerning the frequency of multi-locus imprinting disorder in each ID may be found in Sanchez-Delgado et al. [5], and only reports of MLID post-dating this review are cited in this table